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Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

Mendelian DisorderGenetic DisorderGeneticsGenetic EpidemiologyPathologyBrazilian FamiliesDisease Gene IdentificationDermatologyCol2a1 Gene AnalysisSclerodermaMedicineStickler SyndromeClinical Genetics